Incidental Mutation 'R5343:Alg8'
| ID |
422444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg8
|
| Ensembl Gene |
ENSMUSG00000035704 |
| Gene Name |
ALG8 alpha-1,3-glucosyltransferase |
| Synonyms |
LOC381903 |
| MMRRC Submission |
042922-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5343 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
97020813-97041392 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97036126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 339
(I339T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098300]
|
| AlphaFold |
Q6P8H8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098300
AA Change: I339T
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095901
Gene: ENSMUSG00000035704
AA Change: I339T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Alg6_Alg8
|
21 |
510 |
1.3e-165 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137105
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154107
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310039H08Rik |
C |
A |
17: 47,083,962 (GRCm39) |
A75E |
probably damaging |
Het |
| Adck5 |
G |
A |
15: 76,479,780 (GRCm39) |
R560H |
probably damaging |
Het |
| Ahctf1 |
A |
T |
1: 179,598,199 (GRCm39) |
Y964* |
probably null |
Het |
| Alox5 |
T |
C |
6: 116,390,468 (GRCm39) |
D503G |
possibly damaging |
Het |
| Camk4 |
A |
G |
18: 33,211,122 (GRCm39) |
T76A |
probably damaging |
Het |
| Cdh3 |
T |
C |
8: 107,279,568 (GRCm39) |
V728A |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,097,326 (GRCm39) |
N1326K |
probably damaging |
Het |
| Cnn1 |
A |
T |
9: 22,016,706 (GRCm39) |
Y48F |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,189,599 (GRCm39) |
E16D |
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,553,549 (GRCm39) |
L56S |
probably damaging |
Het |
| F13b |
T |
C |
1: 139,438,282 (GRCm39) |
V299A |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,212,051 (GRCm39) |
S1279P |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,421,156 (GRCm39) |
M981V |
probably benign |
Het |
| Inava |
G |
T |
1: 136,153,180 (GRCm39) |
H237Q |
probably benign |
Het |
| Lpl |
T |
A |
8: 69,348,389 (GRCm39) |
V206E |
probably damaging |
Het |
| Mre11a |
A |
G |
9: 14,723,130 (GRCm39) |
D368G |
probably damaging |
Het |
| Mreg |
G |
A |
1: 72,200,117 (GRCm39) |
P191L |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,486,964 (GRCm39) |
A134S |
probably damaging |
Het |
| Mxd4 |
T |
C |
5: 34,335,074 (GRCm39) |
S114G |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,817,696 (GRCm39) |
Q522R |
probably benign |
Het |
| Ncapd3 |
GGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTG |
9: 26,999,349 (GRCm39) |
|
probably benign |
Het |
| Ninl |
T |
C |
2: 150,813,110 (GRCm39) |
E182G |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,362,257 (GRCm39) |
N1456S |
probably benign |
Het |
| Npr1 |
G |
T |
3: 90,365,515 (GRCm39) |
N648K |
possibly damaging |
Het |
| Oas3 |
A |
G |
5: 120,894,303 (GRCm39) |
S1016P |
possibly damaging |
Het |
| Or10a3 |
C |
T |
7: 108,480,205 (GRCm39) |
V203M |
possibly damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,324 (GRCm39) |
N210S |
probably damaging |
Het |
| Palld |
A |
G |
8: 62,002,849 (GRCm39) |
|
probably benign |
Het |
| Patj |
T |
G |
4: 98,564,430 (GRCm39) |
I1021S |
probably damaging |
Het |
| Pfpl |
T |
A |
19: 12,406,052 (GRCm39) |
L101Q |
probably damaging |
Het |
| Pilrb2 |
T |
A |
5: 137,869,228 (GRCm39) |
E124V |
possibly damaging |
Het |
| Pomk |
A |
G |
8: 26,473,044 (GRCm39) |
F303S |
probably benign |
Het |
| Rap1gap2 |
A |
T |
11: 74,332,611 (GRCm39) |
S65T |
probably damaging |
Het |
| Sema3a |
G |
A |
5: 13,523,373 (GRCm39) |
C114Y |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Spry4 |
A |
T |
18: 38,723,028 (GRCm39) |
V245E |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,295,427 (GRCm39) |
Y271C |
probably damaging |
Het |
| Tas2r136 |
A |
G |
6: 132,755,043 (GRCm39) |
V28A |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,960,330 (GRCm39) |
V998A |
probably benign |
Het |
| Trim37 |
A |
G |
11: 87,028,429 (GRCm39) |
E46G |
probably damaging |
Het |
| Ubiad1 |
A |
G |
4: 148,520,892 (GRCm39) |
V244A |
possibly damaging |
Het |
|
| Other mutations in Alg8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01395:Alg8
|
APN |
7 |
97,027,383 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02349:Alg8
|
APN |
7 |
97,029,101 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02441:Alg8
|
APN |
7 |
97,029,504 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0238:Alg8
|
UTSW |
7 |
97,032,891 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0238:Alg8
|
UTSW |
7 |
97,032,891 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0239:Alg8
|
UTSW |
7 |
97,032,891 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0239:Alg8
|
UTSW |
7 |
97,032,891 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1109:Alg8
|
UTSW |
7 |
97,032,891 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1429:Alg8
|
UTSW |
7 |
97,039,499 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3838:Alg8
|
UTSW |
7 |
97,037,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5622:Alg8
|
UTSW |
7 |
97,036,006 (GRCm39) |
splice site |
probably benign |
|
|
R5910:Alg8
|
UTSW |
7 |
97,039,493 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5963:Alg8
|
UTSW |
7 |
97,029,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6484:Alg8
|
UTSW |
7 |
97,032,135 (GRCm39) |
missense |
probably benign |
|
|
R6735:Alg8
|
UTSW |
7 |
97,032,189 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7896:Alg8
|
UTSW |
7 |
97,040,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7957:Alg8
|
UTSW |
7 |
97,040,131 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7958:Alg8
|
UTSW |
7 |
97,036,128 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9226:Alg8
|
UTSW |
7 |
97,027,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9701:Alg8
|
UTSW |
7 |
97,027,486 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9802:Alg8
|
UTSW |
7 |
97,027,486 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1176:Alg8
|
UTSW |
7 |
97,032,968 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Alg8
|
UTSW |
7 |
97,020,869 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGACCTGACTCATGAGCTATGG -3'
(R):5'- TCACAGAGGCTTTCCTGGTAATC -3'
Sequencing Primer
(F):5'- CTGACTCATGAGCTATGGAATCC -3'
(R):5'- GTTCTCTGAGAATTGCTAGGAAATGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation